title: Alveolar soft-part sarcoma in the sacrum: a case report and review of the literature.
abstract: Alveolar soft part sarcoma (ASPS) is a rare disease of the soft tissue. Although the disease is rare, it is refractory to chemotherapy and radiation. En bloc surgical resection offers the best chance of cure. In this article we report the case of a 28-year-old woman who presented with buttock and leg pain, bowel, bladder and gait impairment and a large mass in the sacrum. Following surgical excision, the lesion was proven to be ASPS. On pathology, the mass was TFE3 (transcription factor E3) positive, indicating the presence of the ASPL-TFE3 (novel gene-transcription factor) translocation. Following surgery, the patient had improvement in her pain and ambulation; however, she refused adjuvant therapy to pursue hospice care and succumbed to her disease 2 years after surgery. On a review of the literature, it was found that ASPS of the bone constitutes a rare and formidable subset of this disease. Further, metastases related to ASPS are common in the lungs, liver, brain, and lymph nodes. The degree of dissemination is a predictor of outcome, with 5-year survival of 81-88% in patients with local disease and only 20-46% in patients with metastatic disease at the time of presentation. Brain metastases at the time of presentation portend the worst prognosis.
authors.affiliation: The Johns Hopkins Hospital, 1550 Orleans Street CRB II Room 264, Baltimore, MD, 21207, USA.
authors.forename: Patricia L
authors.initials: PL
authors.lastname: Zadnik
authors.forename: Alp
authors.initials: A
authors.lastname: Yurter
authors.forename: Rosa
authors.initials: R
authors.lastname: DeLeon
authors.forename: Camilo A
authors.initials: CA
authors.lastname: Molina
authors.forename: Mari L
authors.initials: ML
authors.lastname: Groves
authors.forename: Edward
authors.initials: E
authors.lastname: McCarthy
authors.forename: Daniel M
authors.initials: DM
authors.lastname: Sciubba
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D012447:Sacrum / Q000473:pathology* / Q000601:surgery*; D018234:Sarcoma, Alveolar Soft Part / Q000473:pathology* / Q000601:surgery*; D013125:Spinal Neoplasms / Q000473:pathology* / Q000601:surgery*; D016896:Treatment Outcome